DRD1

dopamine receptor D1, the group of Dopamine receptors

Basic information

Region (hg38): 5:175440035-175444182

Links

ENSG00000184845 ∙ NCBI:1812 ∙ OMIM:126449 ∙ HGNC:3020 ∙ Uniprot:P21728 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRD1 gene.

• Inborn genetic diseases (8 variants)
• not provided (4 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRD1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	8	3	3

Variants in DRD1

This is a list of pathogenic ClinVar variants found in the DRD1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-175441764-T-C		not specified	Uncertain significance (Dec 16, 2022)
5-175441783-T-C			Likely benign (May 21, 2018)
5-175441913-C-A		not specified	Uncertain significance (Apr 10, 2023)
5-175442056-G-A			Benign (Apr 04, 2018)
5-175442060-C-T		not specified	Uncertain significance (Nov 18, 2022)
5-175442342-C-G		not specified	Uncertain significance (Oct 30, 2023)
5-175442556-T-C		not specified	Uncertain significance (Apr 08, 2022)
5-175442578-T-G			Likely benign (Jun 08, 2018)
5-175442631-T-C		not specified	Uncertain significance (May 30, 2022)
5-175442667-T-C		not specified	Uncertain significance (Oct 28, 2023)
5-175442668-G-A			Benign (Jun 08, 2018)
5-175442877-C-T		not specified	Uncertain significance (Jan 27, 2022)
5-175443050-T-A		not specified	Uncertain significance (Oct 06, 2022)
5-175443057-C-T		not specified	Uncertain significance (Sep 16, 2021)
5-175443147-C-T		not specified	Likely benign (Mar 09, 2018)
5-175443147-C-C		not specified	Benign (Feb 27, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRD1	protein_coding	protein_coding	ENST00000393752	1	4170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.956	0.0444	125746	0	2	125748	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.26	150	250	0.599	0.0000141	2923
Missense in Polyphen		44	125.38	0.35094		1507
Synonymous	-0.0915	108	107	1.01	0.00000668	942
Loss of Function	2.89	0	9.76	0.00	5.16e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase.
• Pathway: Dopaminergic synapse - Homo sapiens (human);Gap junction - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics;Levomethadyl Acetate Action Action Pathway;Fluoxetine Action Pathway;Citalopram Action Pathway;Escitalopram Action Pathway;Imipramine Action Pathway;Desipramine Action Pathway;Levallorphan Action Pathway;Dimethylthiambutene Action Pathway;Ethylmorphine Action Pathway;Pentazocine Action Pathway;Naltrexone Action Pathway;Buprenorphine Action Pathway;Alvimopan Action Pathway;Naloxone Action Pathway;Dihydromorphine Action Pathway;Nicotine Action Pathway;Nalbuphine Action Pathway;Ketobemidone Action Pathway;Lidocaine (Local Anaesthetic) Action Pathway;Mepivacaine Action Pathway;Chloroprocaine Action Pathway;Cocaine Action Pathway;Dibucaine Action Pathway;Levobupivacaine Action Pathway;Benzocaine Action Pathway;Bupivacaine Action Pathway;Levorphanol Action Pathway;Propoxyphene Action Pathway;Tramadol Action Action Pathway;Diphenoxylate Action Pathway;Anileridine Action Pathway;Methadone Action Pathway;Oxycodone Action Pathway;Oxybuprocaine Action Pathway;Prilocaine Action Pathway;Procaine Action Pathway;Proparacaine Action Pathway;Ropivacaine Action Pathway;Codeine Action Pathway;Morphine Action Pathway;Heroin Action Pathway;Alfentanil Action Pathway;Oxymorphone Action Pathway;Hydrocodone Action Pathway;Hydromorphone Action Pathway;Sufentanil Action Pathway;Remifentanil Action Pathway;Fentanyl Action Pathway;Carfentanil Action Pathway;Dopamine Activation of Neurological Reward System;3-Methylthiofentanyl Action Pathway;Methadyl Acetate Action Pathway;Dezocine Action Pathway;Common Pathways Underlying Drug Addiction;Phosphodiesterases in neuronal function;GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;regulation of ck1/cdk5 by type 1 glutamate receptors;GPCR Dopamine D1like receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Ghrelin;G alpha (s) signalling events;Dopamine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.301

Intolerance Scores

• loftool: 0.190
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.228
• hipred: Y
• hipred_score: 0.809
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.886

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Drd1
• Phenotype: respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: temperature homeostasis;conditioned taste aversion;behavioral fear response;regulation of protein phosphorylation;synaptic transmission, dopaminergic;response to amphetamine;protein import into nucleus;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-activating dopamine receptor signaling pathway;synapse assembly;memory;mating behavior;grooming behavior;adult walking behavior;visual learning;positive regulation of gene expression;astrocyte development;dopamine transport;transmission of nerve impulse;neuronal action potential;dentate gyrus development;striatum development;cerebral cortex GABAergic interneuron migration;positive regulation of cell migration;peristalsis;operant conditioning;regulation of dopamine metabolic process;vasodilation;dopamine metabolic process;response to drug;maternal behavior;positive regulation of potassium ion transport;histone H3-S10 phosphorylation;glucose import;habituation;sensitization;behavioral response to cocaine;positive regulation of release of sequestered calcium ion into cytosol;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;regulation of dopamine uptake involved in synaptic transmission;positive regulation of synaptic transmission, glutamatergic;prepulse inhibition;phospholipase C-activating dopamine receptor signaling pathway;long-term synaptic potentiation;long-term synaptic depression;cellular response to catecholamine stimulus;cellular response to dopamine;regulation of synaptic vesicle exocytosis
• Cellular component: nucleus;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;dendritic spine;ciliary membrane;non-motile cilium;glutamatergic synapse;GABA-ergic synapse;integral component of postsynaptic membrane;integral component of presynaptic membrane
• Molecular function: dopamine neurotransmitter receptor activity, coupled via Gs;G-protein alpha-subunit binding;dopamine neurotransmitter receptor activity;protein binding;dopamine binding